Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041665 | SCV000065361 | benign | not specified | 2012-02-02 | criteria provided, single submitter | clinical testing | Caucasian data = 3655/7020 (ESP data) |
EGL Genetic Diagnostics, |
RCV000041665 | SCV000114876 | benign | not specified | 2013-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041665 | SCV000169757 | benign | not specified | 2011-07-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000041665 | SCV000317185 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000041665 | SCV000884837 | benign | not specified | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986525 | SCV001135540 | benign | Usher syndrome, type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing |